Molecular basis of hypogonadotropic hypogonadism: Restoration of mutant (E90K) GnRH receptor function by a deletion at a distant site

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Bibliographic Details
Published inThe journal of clinical endocrinology and metabolism Vol. 87; no. 5; pp. 2144 - 2149
Main Authors MAYA-NUNEZ, Guadalupe, JANOVICK, Jo Ann, ULLOA-AGUIRRE, Alfredo, SÖDERLUND, Daniela, CONN, P. Michael, MENDEZ, Juan Pablo
Format Journal Article
LanguageEnglish
Published Bethesda, MD Endocrine Society 01.05.2002
Subjects
Biological and medical sciences
Chromosome aberrations
Endocrinopathies
Hypothalamus. Hypophysis. Epiphysis (diseases)
Medical genetics
Medical sciences
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Chromosomal aberration
Endocrinopathy
Human
Hypogonadotropic hypogonadism
Hypothalamic diseases
Family study
Sibling
Gonadotropin
Homozygosity
Genital diseases
Regulation(control)
Buserelin
Synthesis
Gene
Restoration
Substitution
Deletion
Immunoblotting assay
Abnormal chromosome
Pituitary gland
Mutation
Molecular biology
Release
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More Information
ISSN:0021-972X
1945-7197
DOI:10.1210/jc.87.5.2144